Unlocking the Mysteries of Aortic Dissection: Diagnosis and Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Aortic dissection is a life-threatening condition that occurs when the inner layer of the aorta, the large blood vessel branching off the heart, tears. Blood surges through the tear, causing the inner and middle layers of the aorta to separate. Timely diagnosis and treatment are crucial for survival. In this article, we will explore the understanding, diagnosis, and the role of genetic testing in aortic dissection.

Understanding Aortic Dissection

Aortic dissection is a rare but serious condition that can affect anyone, but it is more common in men and those with a family history of the disease. Certain genetic connective tissue disorders, such as Marfan syndrome, can also increase the risk of developing aortic dissection. The condition can be classified into two types: Type A, which involves the ascending aorta, and Type B, which affects the descending aorta. Type A is more dangerous and requires immediate surgery, while Type B can sometimes be managed with medications.

Epidemiology and Pathophysiology

According to a review article on aortic dissection, the incidence of the condition is estimated to be around 3 per 100,000 person-years. The pathophysiology of aortic dissection involves the weakening of the aortic wall, which can be due to various factors such as genetic predisposition, hypertension, and atherosclerosis. The weakened wall is susceptible to tearing, leading to the separation of the layers and the formation of a false lumen.

Diagnosing Aortic Dissection

Diagnosing aortic dissection can be challenging, as its symptoms can mimic other conditions. The most common symptom is sudden, severe chest pain that may radiate to the back, neck, or arms. Other symptoms may include shortness of breath, sweating, dizziness, and fainting. Diagnosis typically involves imaging tests such as computed tomography (CT) scans, magnetic resonance imaging (MRI), or transesophageal echocardiography (TEE). Blood tests may also be performed to rule out other conditions, such as a heart attack.

Genetic Testing for Aortic Dissection

Genetic testing can play a significant role in the diagnosis and management of aortic dissection, especially for individuals with a family history or those with known genetic connective tissue disorders. By identifying the specific genetic mutations associated with aortic dissection, healthcare providers can better understand the risks and tailor treatment plans accordingly.

Identifying Pathogenic Genes

A study utilizing targeted next-generation sequencing identified several pathogenic genes in sporadic aortic dissection patients, creating a comprehensive genetic map for the Han Chinese population. This information can be used to better understand the genetic factors contributing to aortic dissection and potentially identify individuals at higher risk for the condition.

Managing Genetic Connective Tissue Disorders

For individuals with genetic connective tissue disorders like Marfan syndrome, genetic testing can help guide treatment decisions. A systematic review and meta-analysis compared the outcomes of valve-sparing root replacement versus aortic root replacement procedures in patients with Marfan syndrome and similar connective tissue diseases. The results can help healthcare providers make informed decisions about the best surgical approach for these patients.

Genetic Counseling and Family Planning

For individuals with a known genetic predisposition to aortic dissection, genetic counseling can be beneficial in understanding the risks and making informed decisions about family planning. Couples may choose to undergo preimplantation genetic diagnosis (PGD) or prenatal testing to determine if their child is at risk for developing the condition.

Conclusion

Aortic dissection is a complex and life-threatening condition that requires prompt diagnosis and treatment. Genetic testing plays a crucial role in understanding the underlying genetic factors and guiding treatment decisions, especially for individuals with a family history or known genetic connective tissue disorders. By continuing to explore the genetic basis of aortic dissection, researchers and healthcare providers can improve our understanding of the condition and ultimately improve patient outcomes.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)